A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse (Q34241874)

31 July 2017

title

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse (English)

1 reference

31 July 2017

main subject

spinal muscular atrophy

1 reference

1 reference

Paul N Porensky

1

1 reference

31 July 2017

Chalermchai Mitrpant

2

1 reference

31 July 2017

Vicki L McGovern

3

1 reference

31 July 2017

Adam K Bevan

4

1 reference

31 July 2017

Kevin D Foust

5

1 reference

31 July 2017

Brain K Kaspar

6

1 reference

31 July 2017

Stephen D Wilton

7

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31 July 2017

Arthur H M Burghes

8

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31 July 2017

publication date

20 December 2011

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31 July 2017

published in

Human Molecular Genetics

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31 July 2017

volume

21

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31 July 2017

issue

7

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31 July 2017

page(s)

1625-1638

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Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

31 July 2017

cites work

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Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy.

6 July 2018

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Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway.

6 July 2018

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Temporal requirement for high SMN expression in SMA mice

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Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy

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One-year treatment of morpholino antisense oligomer improves skeletal and cardiac muscle functions in dystrophic mdx mice

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Cardiac defects contribute to the pathology of spinal muscular atrophy models

6 July 2018

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Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice

6 July 2018

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Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery

6 July 2018

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Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

6 July 2018

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CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

6 July 2018

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RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

6 July 2018

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Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy

6 July 2018

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Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy

6 July 2018

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Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy

6 July 2018

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A positive modifier of spinal muscular atrophy in the SMN2 gene

6 July 2018

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Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

6 July 2018

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Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

6 July 2018

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A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice

6 July 2018

1 reference

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Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy

6 July 2018

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Regulation of SMN protein stability

6 July 2018

1 reference

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Embryonic motor axon development in the severe SMA mouse

6 July 2018

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SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing

6 July 2018

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Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice

6 July 2018

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Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

6 July 2018

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Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs

6 July 2018

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SMN transcript stability: could modulation of messenger RNA degradation provide a novel therapy for spinal muscular atrophy?

6 July 2018

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Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy

6 July 2018

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Achieving targeted and quantifiable alteration of mRNA splicing with Morpholino oligos

6 July 2018

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Medical considerations of long-term survival of Werdnig-Hoffmann disease

6 July 2018

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Chaperoning ribonucleoprotein biogenesis in health and disease

6 July 2018

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Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons

6 July 2018

1 reference

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Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

Essential role for the SMN complex in the specificity of snRNP assembly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

Directed differentiation of embryonic stem cells into motor neurons

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

A mouse model for spinal muscular atrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

The survival motor neuron protein in spinal muscular atrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

When Is a Deletion Not a Deletion? When It Is Converted

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

Correlation between severity and SMN protein level in spinal muscular atrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

The neurobiology of childhood spinal muscular atrophy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

Identification and characterization of a spinal muscular atrophy-determining gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

6 July 2018

1 reference

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The genetic component in child mortality

6 July 2018

1 reference

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A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs

6 July 2018

1 reference

Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.

21 January 2018

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Antisense oligonucleotides and spinal muscular atrophy: skipping along.

21 January 2018

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Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy.

21 January 2018

1 reference

Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology

21 January 2018

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Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs

21 January 2018

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Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival

21 January 2018

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Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

21 January 2018

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Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298284

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

28 October 2018

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12 December 2020

Cardiac involvement in Werdnig-Hoffmann's spinal muscular atrophy

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12 December 2020

Repeat-Dose Toxicology Evaluation in Cynomolgus Monkeys of AVI-4658, a Phosphorodiamidate Morpholino Oligomer (PMO) Drug for the Treatment of Duchenne Muscular Dystrophy

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12 December 2020

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

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12 December 2020

SMN oligomerization defect correlates with spinal muscular atrophy severity

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12 December 2020

SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

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12 December 2020

Finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation in patients with progressive spinal muscular atrophy

1 reference

12 December 2020

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

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12 December 2020

Newborn and carrier screening for spinal muscular atrophy

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12 December 2020

Identifiers

DOI

10.1093/HMG/DDR600

1 reference

31 July 2017

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31 July 2017

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